Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

doi:10.1016/j.jid.2016.12.010

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Article

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

The Journal of investigative dermatology - 1 Apr 2017

Gruber Robert, Rogerson Clare, Windpassinger Christian, Banushi Blerida, Straatman-Iwanowska Anna, Hanley Joanna, Forneris Federico, Strohal Robert, Ulz Peter, Crumrine Debra, Menon Gopinathan K, Blunder Stefan, Schmuth Matthias, Müller Thomas, Smith Holly, Mills Kevin, Kroisel Peter, Janecke Andreas R, Gissen Paul

Abstract excerpt

In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen-modifying enzyme LH3. Two patients were homozygous for the missense variant p.Gly131Glu, whereas one...

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PMID: 28017832
DOI: 10.1016/j.jid.2016.12.010
PMCID: PMC5358661

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